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https://hdl.handle.net/2445/221599
Title: | Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome |
Author: | González Muñoz, Sara Long, Yichen Guzmán Jiménez, Andrea Cerván Martín, Miriam Higueras Serrano, Inmaculada Castilla, José A. Clavero, Ana Garrido, Nicolás Luján, Saturnino Yang, Xiaoyu Guo, Xuejiang Liu, Jiayin Bassas, Lluís Seixas, Susana Gonçalves, João Lopes, Alexandra M. Larriba, Sara Bossini Castillo, Lara Palomino Morales, Rogelio J. Wang, Cheng Hu, Zhibin Carmona, F. David |
Keywords: | Malalties de l'aparell genital masculí Espermatogènesi Esterilitat masculina Male genital diseases Spermatogenesis Male sterility |
Issue Date: | 5-Apr-2025 |
Publisher: | Springer Science and Business Media LLC |
Abstract: | Non-obstructive azoospermia, a severe form of male infertility caused by spermatogenic failure (SPGF), has a largely unknown genetic basis across ancestries. To our knowledge, this is the first trans-ethnic meta-analysis of genome-wide association studies on SPGF, involving 2255 men with idiopathic SPGF and 3608 controls from European and Asian populations. Using logistic regression and inverse variance methods, we identify two significant genetic associations with Sertoli cell-only (SCO) syndrome, the most extreme SPGF phenotype. The G allele of rs34915133, in the major histocompatibility complex class II region, significantly increases SCO risk (P = 5.25E-10, OR = 1.57), supporting a potential immune-related cause. Additionally, the rs10842262 variant in the SOX5 gene region is also a genetic marker of SCO (P = 5.29E-09, OR = 0.72), highlighting the key role of this gene in the male reproductive function. Our findings reveal shared genetic factors in male infertility across ancestries and provide insights into the molecular mechanisms underlying SCO. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s42003-025-08001-2 |
It is part of: | Communications Biology, 2025, vol. 8 |
URI: | https://hdl.handle.net/2445/221599 |
Related resource: | https://doi.org/10.1038/s42003-025-08001-2 |
ISSN: | 2399-3642 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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s42003-025-08001-2 (1).pdf | 1.81 MB | Adobe PDF | View/Open |
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